ClinVar Miner

Submissions for variant NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer)

dbSNP: rs1569263557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705046 SCV000834025 pathogenic Androgen resistance syndrome; Kennedy disease 2018-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln65_Gln66delinsHis*) in the AR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AR-related disease. Loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). For these reasons, this variant has been classified as Pathogenic.

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